Tarrass Faissal, Benjelloun Meryem, Hachim Khadija, Benghanem Mohamed G, Ramdani Benyounes, Zaid Driss, Benkirane Amal, Sqalli Saida
Department of Nephrology, Ibn Rochd Hospital, Casablanca, Morocco.
Nephrology (Carlton). 2006 Apr;11(2):117-9. doi: 10.1111/j.1440-1797.2006.00498.x.
Ehlers-Danlos syndrome (EDS), a heterogeneous disease of the connective tissues, is diagnosed by a triad of symptoms that include skin hyperextensibility, joint hypermobility and connective tissue fragility. Nephronophtisis (NPH) is an autosomal recessive interstitial nephritis leading to terminal renal insufficiency around puberty. The occurrence of these two rare diseases together is unusual. A review of the literature discloses no case of this association. We report here on a 16-year-old man with undiagnosed EDS, who was referred to our hospital because of renal insufficiency, history of polyuria and polydipsia. Renal ultrasound showed normal kidney size, with a lack of corticomedullary differentiation. Renal biopsy specimen disclosed chronic tubulointerstitial nephritis resembling NPH. Further evaluation identified hypermobile joints and hyperextensible skin, which led to the diagnosis of the EDS. These data suggest that patients with EDS need to be evaluated carefully for the presence of renal anomalies.
埃勒斯-当洛综合征（EDS）是一种结缔组织的异质性疾病，通过包括皮肤过度伸展、关节活动过度和结缔组织脆弱三联征来诊断。肾单位肾痨（NPH）是一种常染色体隐性遗传性间质性肾炎，在青春期左右导致终末期肾功能不全。这两种罕见疾病同时出现的情况并不常见。文献回顾未发现这种关联的病例。我们在此报告一名16岁未确诊EDS的男性，因肾功能不全、多尿和多饮病史转诊至我院。肾脏超声显示肾脏大小正常，但缺乏皮髓质区分。肾活检标本显示类似NPH的慢性肾小管间质性肾炎。进一步评估发现关节活动过度和皮肤过度伸展，从而诊断为EDS。这些数据表明，需要对EDS患者进行仔细评估，以确定是否存在肾脏异常。
